Gene Therapy Perspective of Autosomal Recessive & Dominant Disorders

Gene Therapy Perspective of Autosomal Recessive & Dominant Disorders

In this blog, our focus would be on autosomal dominant disorders and autosomal recessive disorders that can be cured with a gene therapy approach. Gene therapy has faced numerous obstacles and it took an extensive period of time for reaching up to the clinic from the research lab. However, continuous and rapid advancement in the molecular biology and genomics field set the stage to develop gene therapies for a range of inherited disorders. Because of the certain limitation of the application of drug and surgical treatment, some of the cardiovascular disease also needed gene therapy approaches. Though huge progress has been observed in the treatment of autosomal recessive disorders by delivering the normal exogenous genes that can restore the proper biological function of the affected or mutated gene. However, a similar outcome cannot be expected in the case of autosomal dominant disorder as precise differentiation is required between diseases/mutated alleles from that of healthy/unaffected alleles.

Current Scenario of Clinical Trials of Cell, Gene and RNA Therapies

Current Scenario of Clinical Trials of Cell, Gene and RNA Therapies

Constant emergence of new gene therapies as well as refinement of the existing ones changes the global landscape of the cell and gene therapies clinical trials, where the US, China, and Europe are leading in respect of the number of trials conducted. As per Global Data, China showed 15% faster growth in cell and gene therapy clinical trials making the Asia-Pacific region contributes for one-third of the trial activities. As a result, the Asia Pacific region is witnessing 50% faster growth than the rest of the world (ROW). Asia Pacific region leads globally in terms of CAR-T cell gene therapy clinical trials for the time period 2015-2022 since China alone conducted ~60% of all CAR-T trials. Till April 2022, there are 19 approved gene therapies, 17 RNA-approved therapies while 56 non-genetically modified approved cell therapies (Figure 1). Details of the approved location of the clinical trials of gene therapies and RNA therapies drug product are provided in Table No.1 and Table No. 2 respectively, which presents a bird’s-eye view of the landscape of the clinical trials of the approved gene and RNA therapies.

Insectome: A treasure trove of pharmaceutical compounds

Quite often we hear people talking about microbiome disturbance leading to unhealthy aging and going back to our ancestral habits including paleo diet has the potential to cure many diseases. This folk wisdom is supported by some recent scientific publications. However, we have majorly neglected the fact that paleo diet-eating and cave-dwelling ancestors of ours had several insects on their bodies, and inside caves, they constantly fought with insects. Thus we argue, if modern habits are responsible for the current epidemic of metabolic/cardiovascular/neurological and other degenerative diseases, may be insects also had some role to play in the healthier aging of our ancestors as compared to us. In this blog post, we would like to review the benefits of insect bitings/stings published in the literature. Thus we will examine, if an apparent parasitic interaction between humans and insects is a mutualistic relationship in disguise. When an insect bites/stings us, it releases a barrage of biologically active compounds, including those with potential to act as anticoagulant/vasodilator. Can these chemicals be exploited to cure Cardio-Vascular-Diseases/dissolve internal blood clots? More importantly, there are other chemicals which have virucidal, anti-cancer and antimicrobial properties, which in either native or modified form can be repurposed for pharmaceutical applications.

Base Editing: A Promising Endeavour in Gene Therapy

Moving ahead with our blog series we are bringing up Base Editing a new feather in the cap of gene editing therapy. Base Editing Therapy is a technology that introduces single-nucleotide variants (SNVs) precisely and efficiently at targeted genomic sequences without causing double-stranded breaks in the DNA enabling it as an efficient technique of genome editing. Nearly half of known pathogenic genetic variants are due to SNVs and base editing therapy holds enormous potential for the treatment of these genetic disorders by either temporary RNA or permanent DNA base alterations. Correction of single point mutations will be a major point of interest in the upcoming times for the scientific community for precision medicine.

CAR-T cell Therapy – A powerful Immunotherapeutic tool

CAR-T cell Therapy - A powerful Immunotherapeutic tool

In the journey of our Cancer Immunotherapy blog series, let us introduce CAR-T cell therapy, another milestone in recent years in the field of immunotherapy that has revolutionized the modern medicine. Chimeric Antigen Receptor (CAR) T cell therapy utilizes T-cells, a type of white blood cell (immune cells), to fight cancer by engineering them ex vivo prior to infusing back into the patient. These CAR T-cells can specifically find and destroy cancerous cells. CAR T-cell therapy is a type of cell-based gene therapy or Adoptive Cell Therapy (ACT) as it involves gene alteration of T-cells that enables them to attack specific cancer cells.

Anti-programmed cell death-1 (PD-1) monoclonal antibodies – Latest trend in Immunotherapy


Cancer is a primary leading disease for mortality in the world. Immunotherapy is the latest trend for curing cancer and thus biopharmaceutical industry has developed a keen interest and manufactured several drug products such as monoclonal antibodies for immunotherapy. Programmed Cell Death Protein 1 (PD-1) evades immune response and promotes self-tolerance by modulating the activity of T-cells, activating apoptosis of antigen-specific T cells, and inhibiting apoptosis of regulatory T-cells. On the other hand, Programmed Cell Death Ligand 1 (PD-L1) is a trans-membrane protein and it’s a co-inhibitory factor of the immune response1. Cancer Immunotherapy has been designed to increase the specificity and strength of the immune system against cancer.  James P. Allison and Tasuku Honjo won the 2018 Nobel Prize for Physiology or Medicine for discovering a cancer treatment by suppressing negative immunomodulation.